| H00988 | |
| H number | H00988 |
| Name | Enterokinase deficiency; Enteropeptidase deficiency |
| Description | Enterokinase deficiency is autosomal recessive defect leading to severe failure to thrive. Enterokinase is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which releases active digestive enzymes. |
| Category | Inherited metabolic disorder |
| Network | - |
| Gene | TMPRSS15 [HSA:5651] [KO:K01316] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: DA96.0.Y ICD-10: K90.8 MeSH: C562649 OMIM: 226200 |
| Reference | PMID:11719902 AUTHORS Holzinger A, Maier EM, Buck C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA TITLE Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency. JOURNAL Am J Hum Genet 70:20-5 (2002) DOI:10.1086/338456 |